ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.4016G>A (p.Gly1339Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002359450 SCV002622215 uncertain significance Cardiovascular phenotype 2024-07-11 criteria provided, single submitter clinical testing The p.G1339E variant (also known as c.4016G>A), located in coding exon 9 of the TNXB gene, results from a G to A substitution at nucleotide position 4016. The glycine at codon 1339 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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